ΔF508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus

Constantinou-Deltas, C. D.; Georgiou, Christina; Ioannou, Panos; Angastiniotis, Michael; Aristodemou, Elena

doi:10.1002/humu.1380010609

Cited by 4 publications

(7 citation statements)

References 10 publications

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“…In Cyprus severe cystic fibrosis appears to be rare (Constantinou-Deltas et al, 1992) and this explains the limited number of CF chromosomes analysed. The 1677delTA mutation was detected in 1 out of 10 mutant alleles and may thus be a relatively common cause of the rare disease.…”

Section: Ethnic Distribution Of the Deletionmentioning

confidence: 99%

Cystic fibrosis patients from the black sea region: The 1677delTA mutation

et al. 1994

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A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. The frequency of the mutation was compared among cystic fibrosis patients from several populations, namely Bulgarians, Turks, Greek-Cypriots, Georgians, and Russians. The deletion is most common among Georgian CF patients and gradually declines in frequency in neighbouring populations. It is invariably related to a common polymorphic haplotype which is rare among normal chromosomes in Bulgaria but was found to be common in Turkey. The geographic gradient in the frequency of the mutation, along with findings on polymorphic haplotype distribution, suggest that the mutation is relatively young in evolutionary terms and spread as the result of west and south-bound migrations originating from Georgia. The 1677delTA mutation is related to a severe clinical phenotype with a high early mortality rate among homozygotes and possibly to an increased risk of meconium ileus.

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Section: Ethnic Distribution Of the Deletionmentioning

confidence: 99%

Cystic fibrosis patients from the black sea region: The 1677delTA mutation

et al. 1994

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“…The probands of families 2801 and 2802 that we report here were first identified as being carriers of AF508 and 1677delTA respectively (Constantinou-Deltas et al 1992;Angelicheva et al 1993). Both are severe mutations that affect significantly the function of the protein Ivaschenko et al 1991;Tsui 1992;Angelicheva et al 1993), with symptoms in the lungs and the pancreas.…”

Section: Discussionmentioning

confidence: 77%

“…Because very few CF patients had been identified, it was thought that CF was rare in Cyprus, with a prevalence grossly estimated to be 1:30,000 (Constantinou-Deltas et al 1992). However, the Greek-Cypriot population is mostly of Greek descent and has had significant association and contacts with many other Caucasian populations during its long history, therefore the incidence of CF should be comparable to that in the rest of Europe.…”

Section: Discussionmentioning

confidence: 99%

“…It can be seen that each of the two mutations in the probands was inherited from a different parent. Also shown is that the sister of 4457 in family 2801 (4460), is heterozygous for L346P population (Constantinou-Deltas et al 1992), whereas in mainland Greece one expects 1 AF508 chromosome in 110 (Balassopoulou et al 1990). One specific problem that might explain misdiagnosis or some cases being missed, is the improper method in use for performing the sweat test (Gibson and Cooke 1959).…”

Section: Discussionmentioning

confidence: 99%

“…In one patient with mild symptoms we identified mutation AF508 (Table 1), which he inherited from his mother (patient C I N G no. 4457, Constantinou-Deltas et al 1992). In one other patient with even milder symptoms (CING no.…”

Section: R E S U L T Smentioning

confidence: 94%

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Novel cystic fibrosis mutation associated with mild disease in Cypriot patients

et al. 1994

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Cyprus is an island in the eastern Mediterranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although no careful scientific study had ever been done the impression was that CF was extremely rare among the Greek-Cypriots, with an incidence estimated at around 1:30,000. About 2 years ago, we introduced molecular diagnostic methodology in an effort to assist clinicians in safer diagnosis of patients presenting with atypical CF symptomatology, and also for testing the hypothesis that mutations that cause milder phenotypes might be responsible for misdiagnosis or for missing entirely some cases of CF. Initial screening for delta F508 revealed that it is indeed rare in the general population. Further screening of suspected CF patients revealed a novel mutation that converted leucine at position 346 to proline (L346P) in two unrelated families. The second CF mutation was delta F508 and 1677delTA in the two families respectively, both reportedly associated with severe phenotypes. Yet our patients did not present with typical CF pictures possibly because of the dominant nature of this novel mild mutation in exon 7. Symptoms included failure to thrive, chest infections and electrolyte disturbances. These findings raise the possibility that Cyprus might have been spared very severe CF phenotypes but not cystic fibrosis transmembrane conductance regulator (CFTR) mutations.

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